Gene Symbol | TFAP2B |
Entrez Gene ID | 7021 |
Full Name | transcription factor AP-2 beta |
Synonyms | AP-2B,AP2-B,PDA2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the AP-2 family of transcription factors. AP-2 proteins form homo- or hetero-dimers with other AP-2 family members and bind specific DNA sequences. They are thought to stimulate cell proliferation and suppress terminal differentiation of specific cell types during embryonic development. Specific AP-2 family members differ in their expression patterns and binding affinity for different promoters. This protein functions as both a transcriptional activator and repressor. Mutations in this gene result in autosomal dominant Char syndrome, suggesting that this gene functions in the differentiation of neural crest cell derivatives. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Char syndrome, 169100 (3); Patent ductus arteriosus 2, 617035 (3) |